The SDA board recently approved $7,000 of additional funding for the North American SDS registry. We received info on the registry and have paraphrased it below. For more information or complete details, please contact SDA.
The registry has identified more than 80 patients for the SDSR and has signed consent for more than 70, with data extraction and data entry in progress.
SDS registry projects for the upcoming year:
1) Continuing efforst to obtain medical records from enrolled patients.
2) Analyzing the data available thus far to define the clinical spectrum of presentation. The goal of the project is to improve diagnosis.
3) Analyzing the family history of patients with SDS to determine the clinical significance, if any, of being a carrier for the SBDS gene mutations.
4) Investigating the clinical spectrum and medical course of patients presenting with "clinically defined" SDS but who lack SBDS gene mutations. Also conducting studies to determine the pathophysiologic basis of disease in these patients.
Of note, these projects depend on increasing patient accrual over the coming year.
Just wanted to keep everyone up to date on what SDA has been doing.